Affiliation: Addenbrooke's Hospital
- Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuriaC Shaw-Smith
Department of Clinical Genetics, Addenbrooke s Hospital, Cambridge, UK
Child Care Health Dev 30:551-5. 2004..We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU...
- Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literatureCharles Shaw-Smith
Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
Clin Dysmorphol 14:155-8. 2005..7%) had height on or below the 0.4th centile, while nine (50%) had height on or below the 10th centile. We suggest that short stature is likely to be a phenotypic feature of Feingold syndrome...
- Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologyC Shaw-Smith
Department of Medical Genetics, Box 134, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
J Med Genet 43:545-54. 2006..This paper reviews current knowledge of the genetics and epidemiology of the different oesophageal atresia/tracheo-oesophageal fistula syndromes and associations...
- Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?Dagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
Am J Med Genet A 143:1135-42. 2007..We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome...
- Keipert syndrome: two further cases and review of the literatureSerena Nik-Zainal
Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
Clin Dysmorphol 17:169-75. 2008
- 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt
Department of Medical Genetics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom
Am J Hum Genet 77:154-60. 2005..The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome...
- VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5Dorota Szumska
Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
Genes Dev 22:1465-77. 2008..We propose that Pcsk5, at least in part via GDF11, coordinately regulates caudal Hox paralogs, to control anteroposterior patterning, nephrogenesis, skeletal, and anorectal development...
- Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yieldsSubu Subramonia-Iyer
Public Health Genetics Unit, Cambridge, United Kingdom
Genet Med 9:74-9. 2007..This paper reports the results of an evaluation of this emerging technology and discusses the challenges faced in conducting the evaluation...
- Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith
University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
Nat Genet 38:1032-7. 2006..The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination...
- Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneityEnza Maria Valente
C S S Mendel Institute, San Giovanni Rotondo and Rome, Italy
Mov Disord 18:1047-51. 2003..No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases...